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CHRNG-related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings.
Carrera-García L, Natera-de Benito D, Dieterich K, de la Banda MGG, Felter A, Inarejos E, Codina A, Jou C, Roldan M, Palau F, Hoenicka J, Pijuan J, Ortez C, Expósito-Escudero J, Durand C, Nugues F, Jimenez-Mallebrera C, Colomer J, Carlier RY, Lochmüller H, Quijano-Roy S, Nascimento A. Carrera-García L, et al. Am J Med Genet A. 2019 Jun;179(6):915-926. doi: 10.1002/ajmg.a.61122. Epub 2019 Mar 14. Am J Med Genet A. 2019. PMID: 30868735 Review.
Mutations in the CHRNG gene cause autosomal recessive multiple pterygium syndrome (MPS). Herein we present a long-term follow-up of seven patients with CHRNG-related nonlethal MPS and we compare them with the 57 previously published patients. .. …
Mutations in the CHRNG gene cause autosomal recessive multiple pterygium syndrome (MPS). Herein we presen …
Cardiac anomalies associated with Escobar syndrome: A case report and a review of the literature.
ALGhasab NS, Alshehri B, Altamimi LA, Assiri RA, AlYousef LA, ALMesned S, ALreshidi FS, Kharabsheh SM, Al-Saud SA, Alharbi W. ALGhasab NS, et al. Medicine (Baltimore). 2021 Jul 30;100(30):e26687. doi: 10.1097/MD.0000000000026687. Medicine (Baltimore). 2021. PMID: 34397695 Free PMC article. Review.
RATIONALE: Escobar syndrome (ES) is an autosomal recessive disorder. It is highly characterized by facial abnormalities, congenital diaphragmatic muscle weakness, myasthenic-like features, and skin pterygiums on multiple body legions. ...PATIENT CONCER …
RATIONALE: Escobar syndrome (ES) is an autosomal recessive disorder. It is highly characterized by facial abnormalities …
The lethal multiple pterygium syndrome: a nosological approach.
de Die-Smulders CE, Schrander-Stumpel CT, Fryns JP. de Die-Smulders CE, et al. Genet Couns. 1990;1(1):13-23. Genet Couns. 1990. PMID: 2222917 Review.
The Lethal Multiple Pterygium Syndrome (LMPS) is characterised by lethality, multiple pterygia and frequently hydrops and/or hygroma colli. ...The Finnish type of LMPS appears to be an autosomal recessive trait....
The Lethal Multiple Pterygium Syndrome (LMPS) is characterised by lethality, multiple pterygia and frequently hy …
Congenital diaphragmatic defects and associated syndromes, malformations, and chromosome anomalies: a retrospective study of 60 patients and literature review.
Enns GM, Cox VA, Goldstein RB, Gibbs DL, Harrison MR, Golabi M. Enns GM, et al. Am J Med Genet. 1998 Sep 23;79(3):215-25. Am J Med Genet. 1998. PMID: 9788565 Review.
The 4 of 16 (25%) without additional anomalies on prenatal sonography had multiple anomalies found neonatally, lethal multiple pterygium syndrome being diagnosed in one case. ...Syndromes diagnosed postnatally in 7 of 16 patients (44%) include: Fryns …
The 4 of 16 (25%) without additional anomalies on prenatal sonography had multiple anomalies found neonatally, lethal multiple …
[Surgical management of spinal deformity in a patient with Escobar syndrome: review of the literature].
Hernández-Hernández MC, Canales-Nájera JA, De La Cruz-Álvarez JS, Tena-Zanabria ME, Matus-Jiménez J. Hernández-Hernández MC, et al. Acta Ortop Mex. 2016 Jul-Aug;30(4):196-200. Acta Ortop Mex. 2016. PMID: 28267910 Free article. Review. Spanish.
BACKGROUND: The non-lethal variant of the Escobar or multiple pterygium syndrome is an entity of autosomal recessive inheritance linked to the X chromosome; it is characterized by multiple pterygia (hence its name) located mainly in the n …
BACKGROUND: The non-lethal variant of the Escobar or multiple pterygium syndrome is an entity of autosomal re …